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揭开科隆血红蛋白之谜:脉搏血氧饱和度与动脉血氧饱和度差异的罕见原因——一例报告

Unmasking hemoglobin Köln: a rare cause of discrepancies between pulse oximetry and arterial oxygen saturation-a case report.

作者信息

Alshurafa Awni, Elsabagh Ahmed, Obaid Koutaibah Rida, Elhaji Youssef, Yassin Mohamed A

机构信息

Hematology Department, Hamad Medical Corporation, Doha, Qatar.

College of Medicine, Qatar University, Doha, Qatar.

出版信息

Front Med (Lausanne). 2024 Sep 6;11:1368068. doi: 10.3389/fmed.2024.1368068. eCollection 2024.

Abstract

Discrepancies between pulse oximetry and arterial oxygen saturation can pose challenges in clinical assessment. Possible underlying causes include poor peripheral perfusion, skin pigmentation, motion artifacts, and conditions like unstable hemoglobin and methemoglobinemia. Unstable hemoglobin variants, such as hemoglobin Köln, are rare inherited mutations affecting globin genes, potentially disrupting the folding, assembly, or interactions among subunits in globin molecules and the essential interactions between heme and globin for oxygen-binding properties. In this case report, we present the case of a 44-year-old Arabic woman who underwent extensive investigations due to disparities in pulse oximetry and arterial oxygen saturation, ultimately leading to the diagnosis of the unstable hemoglobin variant, hemoglobin Köln.

摘要

脉搏血氧饱和度与动脉血氧饱和度之间的差异可能给临床评估带来挑战。潜在的原因包括外周灌注不良、皮肤色素沉着、运动伪影以及不稳定血红蛋白和高铁血红蛋白血症等情况。不稳定血红蛋白变体,如血红蛋白科隆,是影响珠蛋白基因的罕见遗传突变,可能破坏珠蛋白分子中亚基之间的折叠、组装或相互作用,以及血红素与珠蛋白之间对于氧结合特性至关重要的相互作用。在本病例报告中,我们介绍了一名44岁阿拉伯女性的病例,该患者因脉搏血氧饱和度和动脉血氧饱和度的差异接受了广泛检查,最终诊断为不稳定血红蛋白变体血红蛋白科隆。

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本文引用的文献

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Anesthesiology. 1994 Feb;80(2):474-6. doi: 10.1097/00000542-199402000-00030.
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Oxygen affinity in hemoglobin Köln disease.
Blood. 1972 Mar;39(3):398-406.

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